50 years ago, Sedláčková (1955) described a syndrome of congenitally shortened velum accompanied by hypernasal speech, facial dysmorphisms and further anomalies, as well as mental retardation. In the following years, she referred also to cardiac malformations and submucous clefts. Shprintzen et al. (33) published a very similar pattern apart from overt clefts, coined it as velo-cardio-facial syndrome (VCFS) and explained it 1992 by a microdeletion 22q11.2. Vrtička et al. (1996–2001) demonstrated del 22q 11.2 in 16 of 20 cases classified as Sedláčková syndrome. Thus, the common etiology and the identity of the Sedláčková with the Shprintzen syndrome were proven. Our findings of frequent cardiovascular malformations, of prevailing mental retardation and of several late-onset psychoses emphasize the necessity of genetic testing in all individuals suspected of VCFS. In del 22q11.2 proved cases, we recommend genetic counseling because of the risk of more severe expression of the DiGeorge syndrome in subsequent generations. Recently, several authors repeatedly stressed the importance of the VCFS by pointing out the associated cardiac and laryngeal malformations and by warning against the risk of innate carotid medialisation in velopharyngeal surgery, by evoking linked otological problems, by elucidating the accompanying immune and hormonal dysfunctions, by summarizing the voice and resonance disorders as well as by discussing the difficulties in rehabilitation due to mental, language and speech retardation in VCFS subjects. Because of its multiple impact, the clinical pattern of the VCFS due to the del 22q11.2 remains thus an persistent and important present-day diagnostic and therapeutic challenge.

        Key words: Sedláčková syndrome, Shprintzen syndrome, velo-cardio-facial syndrome (VCFS), 22q11.2 deletion syndrome, velofacial hypoplasia.